Canonical Allele Identifier: CA16028689

Gene: APC

Linked Data

• ClinVar Variation Id: 1055767
• ClinVar RCV Id: RCV003169834 ; RCV003771103
• dbSNP Id: rs1765404132
• gnomAD v4: 5-112838952-G-A
• MyVariant Identifiers: chr5:g.112174649G>A (hg19) ; chr5:g.112838952G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.112838952G>A , CM000667.2:g.112838952G>A	GRCh38
NC_000005.9:g.112174649G>A , CM000667.1:g.112174649G>A	GRCh37
NC_000005.8:g.112202548G>A	NCBI36
NG_008481.4:g.151432G>A , LRG_130:g.151432G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000502371.3:c.3023G>A	ENSP00000484935.2:n.3023G>A
ENST00000504915.3:c.3412G>A	ENSP00000473355.2:p.Gly1138Arg
ENST00000505350.2:c.*3364G>A	ENSP00000481752.1:n.*3364G>A
ENST00000507379.6:c.3304G>A	ENSP00000423224.2:p.Gly1102Arg
ENST00000509732.6:c.3358G>A	ENSP00000426541.2:p.Gly1120Arg
ENST00000512211.7:c.3358G>A	ENSP00000423828.3:p.Gly1120Arg
ENST00000257430.9:c.3358G>A MANE Select	ENSP00000257430.4:p.Gly1120Arg
ENST00000257430.8:c.3358G>A	ENSP00000257430.4:p.Gly1120Arg
ENST00000502371.2:c.1711G>A
ENST00000507379.5:c.3304G>A	ENSP00000423224.1:p.Gly1102Arg
ENST00000508376.6:c.3358G>A	ENSP00000427089.2:p.Gly1120Arg
ENST00000508624.5:c.*2680G>A	ENSP00000424265.1:n.*2680G>A
ENST00000512211.6:c.3358G>A	ENSP00000423828.2:p.Gly1120Arg
ENST00000520401.1:c.230+9980G>A
NM_000038.5:c.3358G>A	NP_000029.2:p.Gly1120Arg
NM_001127510.2:c.3358G>A	NP_001120982.1:p.Gly1120Arg
NM_001127511.2:c.3304G>A	NP_001120983.2:p.Gly1102Arg
NM_001354895.1:c.3358G>A	NP_001341824.1:p.Gly1120Arg
NM_001354896.1:c.3412G>A	NP_001341825.1:p.Gly1138Arg
NM_001354897.1:c.3388G>A	NP_001341826.1:p.Gly1130Arg
NM_001354898.1:c.3283G>A	NP_001341827.1:p.Gly1095Arg
NM_001354899.1:c.3274G>A	NP_001341828.1:p.Gly1092Arg
NM_001354900.1:c.3235G>A	NP_001341829.1:p.Gly1079Arg
NM_001354901.1:c.3181G>A	NP_001341830.1:p.Gly1061Arg
NM_001354902.1:c.3085G>A	NP_001341831.1:p.Gly1029Arg
NM_001354903.1:c.3055G>A	NP_001341832.1:p.Gly1019Arg
NM_001354904.1:c.2980G>A	NP_001341833.1:p.Gly994Arg
NM_001354905.1:c.2878G>A	NP_001341834.1:p.Gly960Arg
NM_001354906.1:c.2509G>A	NP_001341835.1:p.Gly837Arg
NM_000038.6:c.3358G>A MANE Select	NP_000029.2:p.Gly1120Arg
NM_001127510.3:c.3358G>A	NP_001120982.1:p.Gly1120Arg
NM_001127511.3:c.3304G>A	NP_001120983.2:p.Gly1102Arg
NM_001354895.2:c.3358G>A	NP_001341824.1:p.Gly1120Arg
NM_001354896.2:c.3412G>A	NP_001341825.1:p.Gly1138Arg
NM_001354897.2:c.3388G>A	NP_001341826.1:p.Gly1130Arg
NM_001354898.2:c.3283G>A	NP_001341827.1:p.Gly1095Arg
NM_001354899.2:c.3274G>A	NP_001341828.1:p.Gly1092Arg
NM_001354900.2:c.3235G>A	NP_001341829.1:p.Gly1079Arg
NM_001354901.2:c.3181G>A	NP_001341830.1:p.Gly1061Arg
NM_001354902.2:c.3085G>A	NP_001341831.1:p.Gly1029Arg
NM_001354903.2:c.3055G>A	NP_001341832.1:p.Gly1019Arg
NM_001354904.2:c.2980G>A	NP_001341833.1:p.Gly994Arg
NM_001354905.2:c.2878G>A	NP_001341834.1:p.Gly960Arg
NM_001354906.2:c.2509G>A	NP_001341835.1:p.Gly837Arg